Abstract

We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects received ADOS and ADI-R testing and met diagnostic criteria for autism or autism spectrum disorders. They exhibited difficulties with transitions, insistence on sameness, unusual sensory interests, and repetitive behaviors. Those with the best language skills largely used repetitive phrases. No mutations were found in folate transporter or folate enzyme genes. These findings demonstrate that autistic features are salient in CFD and suggest that a subset of children with developmental regression, mental retardation, seizures, dyskinesia, and autism may have CNS folate abnormalities.

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Acknowledgments

The data were obtained in the course of clinical care and are used with the written permission of the subject’s parents. The authors thank the patients and their families for their cooperation and Arthur L. Beaudet, MD for his support. This study was funded by the Gustavus and Louise Pfeiffer Foundation. P.M. was supported by NIH NS049181 and March of Dimes 5-FY05-38 Basil O’Connor Starter Scholar Research Award.